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. Author manuscript; available in PMC: 2013 Apr 1.
Published in final edited form as: Mol Genet Metab. 2012 Jan 12;105(4):658–664. doi: 10.1016/j.ymgme.2012.01.005

Table 3.

Number of family-specific mutations and mutation frequencies per gene and base pair (bp) in four HPE genes by the respective research group.

Gene NIH (n=189) French (n=200) Dutch (n=86) Aggregate (n=475)
Mutations detected
SHH 10 15 3 28
ZIC2 8 7 8 23
SIX3 9 8 8 25
TGIF 1 2 0 3
Mutation frequency per gene
SHH 5.29% 7.50% 3.49% 5.89%
ZIC2 4.23% 3.50% 9.30% 4.84%
SIX3 4.76% 4.00% 9.30% 5.26%
TGIF 0.53% 1.00% 0.00% 0.63%
Mutation frequency per bpa
SHH 3.81×10−5 5.40×10−5 2.51×10−5 4.24×10−5
ZIC2 1.58×10−5 1.30×10−5 3.47×10−5 1.81×10−5
SIX3 4.77×10−5 4.00×10−5 9.31×10−5 5.27×10−5
TGIF 6.48×10−6 1.23×10−5 0 1.95×10−5
a

SHH, ZIC2, SIX3 and TGIF have, respectively, 1389 bp, 2682 bp, 999 bp and 816 bp in length.